rs342171

Homo sapiens
T>C
PPM1H : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T==0445 (13330/29912,GnomAD)
T==0400 (11654/29118,TOPMED)
T==0363 (1818/5008,1000G)
C=0353 (1360/3854,ALSPAC)
C=0359 (1332/3708,TWINSUK)
chr12:62720730 (GRCh38.p7) (12q14.2)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.62720730T>C
GRCh37.p13 chr 12NC_000012.11:g.63114510T>C

Gene: PPM1H, protein phosphatase, Mg2+/Mn2+ dependent 1H(minus strand)

Molecule type Change Amino acid[Codon] SO Term
PPM1H transcriptNM_020700.1:c.N/AIntron Variant
PPM1H transcript variant X1XM_011538578.2:c.N/AIntron Variant
PPM1H transcript variant X3XM_011538579.1:c.N/AIntron Variant
PPM1H transcript variant X2XM_017019676.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.052C=0.948
1000GenomesAmericanSub694T=0.460C=0.540
1000GenomesEast AsianSub1008T=0.289C=0.711
1000GenomesEuropeSub1006T=0.630C=0.370
1000GenomesGlobalStudy-wide5008T=0.363C=0.637
1000GenomesSouth AsianSub978T=0.510C=0.490
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.647C=0.353
The Genome Aggregation DatabaseAfricanSub8704T=0.128C=0.872
The Genome Aggregation DatabaseAmericanSub838T=0.490C=0.510
The Genome Aggregation DatabaseEast AsianSub1612T=0.314C=0.686
The Genome Aggregation DatabaseEuropeSub18456T=0.602C=0.397
The Genome Aggregation DatabaseGlobalStudy-wide29912T=0.445C=0.554
The Genome Aggregation DatabaseOtherSub302T=0.630C=0.370
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.400C=0.599
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.641C=0.359
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs3421710.000409alcohol dependence21314694

eQTL of rs342171 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs342171 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr126307735563079313E067-35197
chr126309505363095127E067-19383
chr126309517663095226E067-19284
chr126309533163095662E067-18848
chr126309570663095783E067-18727
chr126309602463098071E067-16439
chr126309814063098287E067-16223
chr126310734663107396E067-7114
chr126310766863107810E067-6700
chr126310781763107900E067-6610
chr126310806163108217E067-6293
chr126310827863109797E067-4713
chr126310986663109957E067-4553
chr126310996763110035E067-4475
chr126311099063111225E067-3285
chr126311126563111347E067-3163
chr126311151163111741E067-2769
chr126311175363111968E067-2542
chr126311197463112054E067-2456
chr126311227463112365E067-2145
chr126311291763113133E067-1377
chr126311333163113405E067-1105
chr126311354863113628E067-882
chr126311375263113802E067-708
chr126311384063113960E067-550
chr126311396463114107E067-403
chr126311414463114201E067-309
chr126311423263115056E0670
chr126311508763115137E067577
chr126311514463115204E067634
chr126311582163115872E0671311
chr126311588163115935E0671371
chr126311593963116058E0671429
chr126311655663117301E0672046
chr126311747863117697E0672968
chr126311770763117875E0673197
chr126311806463119317E0673554
chr126312234563122513E0677835
chr126312256063122702E0678050
chr126312272663123003E0678216
chr126312302063123279E0678510
chr126312445963124760E0679949
chr126312483463126358E06710324
chr126313284663133892E06718336
chr126313397363134125E06719463
chr126313424263134362E06719732
chr126313496763135370E06720457
chr126313576163135811E06721251
chr126314241763142732E06727907
chr126314294363143025E06728433
chr126314316563143455E06728655
chr126314347763143527E06728967
chr126314372463143774E06729214
chr126314395163144039E06729441
chr126314429363144338E06729783
chr126314458063144770E06730070
chr126314477663144874E06730266
chr126314503963145268E06730529
chr126314542063145617E06730910
chr126314566863145835E06731158
chr126315050963150615E06735999
chr126315066063150807E06736150
chr126315084263150896E06736332
chr126316043863160609E06745928
chr126316088763160994E06746377
chr126316103263161183E06746522
chr126316122763161297E06746717
chr126316130663161583E06746796
chr126307735563079313E068-35197
chr126309222763092288E068-22222
chr126309229763092423E068-22087
chr126309505363095127E068-19383
chr126309517663095226E068-19284
chr126309533163095662E068-18848
chr126309570663095783E068-18727
chr126309602463098071E068-16439
chr126310669563107287E068-7223
chr126310734663107396E068-7114
chr126310766863107810E068-6700
chr126310781763107900E068-6610
chr126310806163108217E068-6293
chr126310827863109797E068-4713
chr126311080363110911E068-3599
chr126311099063111225E068-3285
chr126311126563111347E068-3163
chr126311151163111741E068-2769
chr126311175363111968E068-2542
chr126311197463112054E068-2456
chr126311384063113960E068-550
chr126311396463114107E068-403
chr126311414463114201E068-309
chr126311423263115056E0680
chr126311508763115137E068577
chr126311514463115204E068634
chr126311747863117697E0682968
chr126311770763117875E0683197
chr126311806463119317E0683554
chr126312234563122513E0687835
chr126312256063122702E0688050
chr126312272663123003E0688216
chr126312302063123279E0688510
chr126312329863123657E0688788
chr126312402063124287E0689510
chr126312430063124449E0689790
chr126312445963124760E0689949
chr126312483463126358E06810324
chr126314477663144874E06830266
chr126314503963145268E06830529
chr126316088763160994E06846377
chr126307735563079313E069-35197
chr126308665163087777E069-26733
chr126308781163087916E069-26594
chr126308801463088238E069-26272
chr126309505363095127E069-19383
chr126309517663095226E069-19284
chr126309533163095662E069-18848
chr126309570663095783E069-18727
chr126309602463098071E069-16439
chr126310256163102611E069-11899
chr126310284763102924E069-11586
chr126310307563103137E069-11373
chr126310316663103378E069-11132
chr126310626663106666E069-7844
chr126310669563107287E069-7223
chr126310734663107396E069-7114
chr126310766863107810E069-6700
chr126310781763107900E069-6610
chr126310806163108217E069-6293
chr126310827863109797E069-4713
chr126311080363110911E069-3599
chr126311099063111225E069-3285
chr126311126563111347E069-3163
chr126311151163111741E069-2769
chr126311175363111968E069-2542
chr126311197463112054E069-2456
chr126311227463112365E069-2145
chr126311291763113133E069-1377
chr126311333163113405E069-1105
chr126311354863113628E069-882
chr126311375263113802E069-708
chr126311384063113960E069-550
chr126311396463114107E069-403
chr126311414463114201E069-309
chr126311423263115056E0690
chr126311508763115137E069577
chr126311514463115204E069634
chr126311582163115872E0691311
chr126311588163115935E0691371
chr126311593963116058E0691429
chr126311655663117301E0692046
chr126312201163122071E0697501
chr126312234563122513E0697835
chr126312256063122702E0698050
chr126312272663123003E0698216
chr126312302063123279E0698510
chr126312329863123657E0698788
chr126312402063124287E0699510
chr126312430063124449E0699790
chr126312445963124760E0699949
chr126313223563132792E06917725
chr126313284663133892E06918336
chr126313397363134125E06919463
chr126313424263134362E06919732
chr126314458063144770E06930070
chr126314477663144874E06930266
chr126314503963145268E06930529
chr126314542063145617E06930910
chr126314566863145835E06931158
chr126315155463151608E06937044
chr126315169463151928E06937184
chr126315195263152382E06937442
chr126316043863160609E06945928
chr126316088763160994E06946377
chr126316103263161183E06946522
chr126316122763161297E06946717
chr126316130663161583E06946796
chr126316185363161950E06947343
chr126316206763162117E06947557
chr126310525363106175E070-8335
chr126310626663106666E070-7844
chr126310669563107287E070-7223
chr126310827863109797E070-4713
chr126311151163111741E070-2769
chr126311175363111968E070-2542
chr126311197463112054E070-2456
chr126311396463114107E070-403
chr126311414463114201E070-309
chr126311423263115056E0700
chr126311508763115137E070577
chr126311514463115204E070634
chr126307706463077254E071-37256
chr126307735563079313E071-35197
chr126309505363095127E071-19383
chr126309517663095226E071-19284
chr126309533163095662E071-18848
chr126309570663095783E071-18727
chr126309602463098071E071-16439
chr126309814063098287E071-16223
chr126310284763102924E071-11586
chr126310307563103137E071-11373
chr126310316663103378E071-11132
chr126310525363106175E071-8335
chr126310626663106666E071-7844
chr126310669563107287E071-7223
chr126310734663107396E071-7114
chr126310766863107810E071-6700
chr126310781763107900E071-6610
chr126310806163108217E071-6293
chr126310986663109957E071-4553
chr126310996763110035E071-4475
chr126311054263110660E071-3850
chr126311068463110733E071-3777
chr126311080363110911E071-3599
chr126311099063111225E071-3285
chr126311126563111347E071-3163
chr126311151163111741E071-2769
chr126311175363111968E071-2542
chr126311197463112054E071-2456
chr126311291763113133E071-1377
chr126311333163113405E071-1105
chr126311354863113628E071-882
chr126311375263113802E071-708
chr126311384063113960E071-550
chr126311396463114107E071-403
chr126311414463114201E071-309
chr126311423263115056E0710
chr126311508763115137E071577
chr126311514463115204E071634
chr126311582163115872E0711311
chr126311588163115935E0711371
chr126311593963116058E0711429
chr126311655663117301E0712046
chr126311747863117697E0712968
chr126311770763117875E0713197
chr126311806463119317E0713554
chr126312256063122702E0718050
chr126312272663123003E0718216
chr126312302063123279E0718510
chr126312329863123657E0718788
chr126312445963124760E0719949
chr126312483463126358E07110324
chr126313284663133892E07118336
chr126313397363134125E07119463
chr126313424263134362E07119732
chr126313445663134550E07119946
chr126313468963134739E07120179
chr126313576163135811E07121251
chr126313839763138741E07123887
chr126313887263138932E07124362
chr126313917063139405E07124660
chr126314294363143025E07128433
chr126314316563143455E07128655
chr126314347763143527E07128967
chr126314372463143774E07129214
chr126314395163144039E07129441
chr126314429363144338E07129783
chr126314503963145268E07130529
chr126314542063145617E07130910
chr126314566863145835E07131158
chr126315169463151928E07137184
chr126315195263152382E07137442
chr126316043863160609E07145928
chr126316088763160994E07146377
chr126316103263161183E07146522
chr126316122763161297E07146717
chr126316130663161583E07146796
chr126316296463163056E07148454
chr126316314863163250E07148638
chr126316327063163449E07148760
chr126316351863164207E07149008
chr126307735563079313E072-35197
chr126308665163087777E072-26733
chr126309505363095127E072-19383
chr126309517663095226E072-19284
chr126309533163095662E072-18848
chr126309570663095783E072-18727
chr126309602463098071E072-16439
chr126309814063098287E072-16223
chr126310284763102924E072-11586
chr126310307563103137E072-11373
chr126310316663103378E072-11132
chr126310766863107810E072-6700
chr126310781763107900E072-6610
chr126310806163108217E072-6293
chr126310827863109797E072-4713
chr126310986663109957E072-4553
chr126310996763110035E072-4475
chr126311068463110733E072-3777
chr126311080363110911E072-3599
chr126311099063111225E072-3285
chr126311126563111347E072-3163
chr126311151163111741E072-2769
chr126311175363111968E072-2542
chr126311197463112054E072-2456
chr126311227463112365E072-2145
chr126311291763113133E072-1377
chr126311333163113405E072-1105
chr126311354863113628E072-882
chr126311375263113802E072-708
chr126311384063113960E072-550
chr126311396463114107E072-403
chr126311414463114201E072-309
chr126311423263115056E0720
chr126311508763115137E072577
chr126311514463115204E072634
chr126311582163115872E0721311
chr126311588163115935E0721371
chr126311593963116058E0721429
chr126311655663117301E0722046
chr126311747863117697E0722968
chr126311770763117875E0723197
chr126311806463119317E0723554
chr126312201163122071E0727501
chr126312234563122513E0727835
chr126312256063122702E0728050
chr126312272663123003E0728216
chr126312302063123279E0728510
chr126312329863123657E0728788
chr126312402063124287E0729510
chr126312483463126358E07210324
chr126313142063131701E07216910
chr126313193763132199E07217427
chr126313223563132792E07217725
chr126313397363134125E07219463
chr126313424263134362E07219732
chr126313445663134550E07219946
chr126313468963134739E07220179
chr126313496763135370E07220457
chr126313576163135811E07221251
chr126313606563136162E07221555
chr126313629363136343E07221783
chr126313839763138741E07223887
chr126313887263138932E07224362
chr126314458063144770E07230070
chr126314477663144874E07230266
chr126314503963145268E07230529
chr126316043863160609E07245928
chr126316088763160994E07246377
chr126316103263161183E07246522
chr126316122763161297E07246717
chr126316130663161583E07246796
chr126316185363161950E07247343
chr126307735563079313E073-35197
chr126309505363095127E073-19383
chr126309517663095226E073-19284
chr126309602463098071E073-16439
chr126309814063098287E073-16223
chr126310827863109797E073-4713
chr126311291763113133E073-1377
chr126311333163113405E073-1105
chr126311354863113628E073-882
chr126311375263113802E073-708
chr126311384063113960E073-550
chr126311396463114107E073-403
chr126311414463114201E073-309
chr126311423263115056E0730
chr126311508763115137E073577
chr126311514463115204E073634
chr126312234563122513E0737835
chr126312256063122702E0738050
chr126312272663123003E0738216
chr126312302063123279E0738510
chr126312483463126358E07310324
chr126313284663133892E07318336
chr126313397363134125E07319463
chr126313424263134362E07319732
chr126316043863160609E07345928
chr126316088763160994E07346377
chr126307706463077254E074-37256
chr126307735563079313E074-35197
chr126309505363095127E074-19383
chr126309517663095226E074-19284
chr126309533163095662E074-18848
chr126309570663095783E074-18727
chr126309602463098071E074-16439
chr126309814063098287E074-16223
chr126310284763102924E074-11586
chr126310307563103137E074-11373
chr126310316663103378E074-11132
chr126310525363106175E074-8335
chr126310734663107396E074-7114
chr126310766863107810E074-6700
chr126310781763107900E074-6610
chr126310806163108217E074-6293
chr126310827863109797E074-4713
chr126310986663109957E074-4553
chr126310996763110035E074-4475
chr126311054263110660E074-3850
chr126311068463110733E074-3777
chr126311080363110911E074-3599
chr126311099063111225E074-3285
chr126311126563111347E074-3163
chr126311151163111741E074-2769
chr126311175363111968E074-2542
chr126311197463112054E074-2456
chr126311333163113405E074-1105
chr126311354863113628E074-882
chr126311375263113802E074-708
chr126311384063113960E074-550
chr126311396463114107E074-403
chr126311414463114201E074-309
chr126311423263115056E0740
chr126311508763115137E074577
chr126311514463115204E074634
chr126311582163115872E0741311
chr126311588163115935E0741371
chr126311593963116058E0741429
chr126311655663117301E0742046
chr126311747863117697E0742968
chr126311770763117875E0743197
chr126312234563122513E0747835
chr126312256063122702E0748050
chr126312272663123003E0748216
chr126312302063123279E0748510
chr126313223563132792E07417725
chr126313284663133892E07418336
chr126313397363134125E07419463
chr126313424263134362E07419732
chr126313445663134550E07419946
chr126313468963134739E07420179
chr126313496763135370E07420457
chr126313576163135811E07421251
chr126313606563136162E07421555
chr126313629363136343E07421783
chr126314458063144770E07430070
chr126314477663144874E07430266
chr126314503963145268E07430529
chr126314542063145617E07430910
chr126314566863145835E07431158
chr126316088763160994E07446377
chr126308665163087777E081-26733
chr126310525363106175E081-8335
chr126310626663106666E081-7844
chr126310669563107287E081-7223
chr126310734663107396E081-7114
chr126310766863107810E081-6700
chr126310781763107900E081-6610
chr126310806163108217E081-6293
chr126310827863109797E081-4713
chr126310986663109957E081-4553
chr126311054263110660E081-3850
chr126311068463110733E081-3777
chr126311080363110911E081-3599
chr126311099063111225E081-3285
chr126311126563111347E081-3163
chr126311175363111968E081-2542
chr126311333163113405E081-1105
chr126311354863113628E081-882
chr126311375263113802E081-708
chr126311384063113960E081-550
chr126311396463114107E081-403
chr126311414463114201E081-309
chr126311423263115056E0810
chr126311508763115137E081577
chr126311514463115204E081634
chr126311582163115872E0811311
chr126311588163115935E0811371
chr126311593963116058E0811429
chr126311655663117301E0812046
chr126311747863117697E0812968
chr126311770763117875E0813197
chr126313048063131283E08115970
chr126308665163087777E082-26733
chr126308781163087916E082-26594
chr126308801463088238E082-26272
chr126310525363106175E082-8335
chr126310626663106666E082-7844
chr126310669563107287E082-7223
chr126310734663107396E082-7114
chr126311054263110660E082-3850
chr126311068463110733E082-3777
chr126311080363110911E082-3599
chr126311099063111225E082-3285
chr126311126563111347E082-3163
chr126311151163111741E082-2769
chr126311175363111968E082-2542
chr126311197463112054E082-2456
chr126311375263113802E082-708
chr126311384063113960E082-550
chr126311396463114107E082-403
chr126311414463114201E082-309
chr126311423263115056E0820
chr126311508763115137E082577
chr126311514463115204E082634
chr126311655663117301E0822046
chr126311747863117697E0822968
chr126313001563130076E08215505
chr126313142063131701E08216910
chr126313193763132199E08217427
chr126313223563132792E08217725